Varaico: Literature-Extracted Genetic Variants

MCM8

129 papers

RefSeq Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein...

Pfam Domains

MCM8_Naa 93–201UCSCMCM8, N-terminal domain

MCM_OBaa 206–339UCSCMCM OB domain

MCMaa 389–613UCSCMCM P-loop domain

MCM_lidaa 664–748UCSCMCM AAA-lid domain

WHD_MCM8aa 760–839UCSCMCM8 winged helix domain

Gene Aliases

HGNC Name

minichromosome maintenance 8 homologous recombination repair factor

HGNC Previous Symbol

C20orf154

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001281521.2

p.R451H

c.1352G>A

Surrounding Variants

1 paper

NM_032485.6

p.F429_G430del1

c.1286_1288delTTG

1 paper

NM_032485.6

p.K434_I442del9

c.1300_1325del27

1 paper

NM_032485.6

p.N440D

c.1318A>G

3 papers

NM_032485.6

p.R445Q

c.1334G>A

1 paper

NM_032485.6

p.L451delFs

c.1351delC

1 paper

NM_032485.6

p.G454*

c.1360G>T

1 paper

NM_032485.6

p.P456A

c.1366C>G

1 paper

NM_032485.6

p.E418insFs

c.1254dupA

1 paper

NM_032485.6

p.P412S

c.1234C>T

1 paper

NM_032485.6

p.S409L

c.1226C>T

1 paper

NM_032485.6

p.L405F

c.1213C>T

1 paper

NM_032485.6

p.F403delFs

c.1209delT